関連する実験動画

Updated: Sep 9, 2025

Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia
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Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia

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p.Ile512Leu TNNI3k変異と関連した拡張心筋病の最初の表れとして,十代の患者における時計回りのバンドルブランチ再侵入性心房不全症:症例報告

Marta González-Quijano1, Juan Acosta1, Manuel Frutos-López1

  • 1Cardiology Department, Arrhythmia Section, Virgen del Rocío University Hospital, Avda Manuel Siurot s/n, Seville 41013, Spain.

European heart journal. Case reports
|September 4, 2025
PubMed
まとめ

TNNI3Kの希少な遺伝子変異により,十代の若者において,バンドル・ブランチ・リエントラント・ヴァントリキュラー・タヒカルディア (BBRVT) とファミリアル・ディラテッド・カーディオミオパシーが発生した. 遺伝子検査は 原因不明の心臓のリズムや 伝導に問題がある若い患者にとって 極めて重要です

キーワード:
ケースレポート拡張心筋病Plle512Leu バリアントTNNI3k遺伝子バンドル・ブランク・リエントラント・コンクリート・タキカルディア

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